Canonical Allele Identifier: CA413144282

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561061C>A (hg19) ; chrX:g.53534100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534100C>A , CM000685.2:g.53534100C>A	GRCh38
NC_000023.10:g.53561061C>A , CM000685.1:g.53561061C>A	GRCh37
NC_000023.9:g.53577786C>A	NCBI36
NG_016261.2:g.157634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12713G>T	ENSP00000515693.1:p.Gly4238Val
ENST00000262854.11:c.12929G>T MANE Select	ENSP00000262854.6:p.Gly4310Val
ENST00000262854.10:c.12929G>T	ENSP00000262854.6:p.Gly4310Val
ENST00000342160.7:c.12929G>T	ENSP00000340648.3:p.Gly4310Val
ENST00000426907.5:c.3396G>T
ENST00000488459.1:n.242G>T
ENST00000612484.4:c.12902G>T	ENSP00000479451.1:p.Gly4301Val
NM_031407.6:c.12929G>T	NP_113584.3:p.Gly4310Val
XM_005261965.2:c.12929G>T	XP_005262022.1:p.Gly4310Val
XM_011530746.1:c.13178G>T	XP_011529048.1:p.Gly4393Val
XM_011530747.1:c.13178G>T	XP_011529049.1:p.Gly4393Val
XM_011530748.1:c.13178G>T	XP_011529050.1:p.Gly4393Val
XM_011530749.1:c.13178G>T	XP_011529051.1:p.Gly4393Val
XM_011530750.1:c.13178G>T	XP_011529052.1:p.Gly4393Val
XM_011530751.1:c.13178G>T	XP_011529053.1:p.Gly4393Val
XM_011530752.1:c.13175G>T	XP_011529054.1:p.Gly4392Val
XM_011530753.1:c.13133G>T	XP_011529055.1:p.Gly4378Val
XM_011530754.1:c.13130G>T	XP_011529056.1:p.Gly4377Val
XM_011530755.1:c.13127G>T	XP_011529057.1:p.Gly4376Val
XM_011530756.1:c.13079G>T	XP_011529058.1:p.Gly4360Val
XM_011530757.1:c.12776G>T	XP_011529059.1:p.Gly4259Val
XM_005261965.4:c.12929G>T	XP_005262022.1:p.Gly4310Val
XM_011530751.2:c.13178G>T	XP_011529053.1:p.Gly4393Val
XM_017029191.1:c.13310G>T	XP_016884680.1:p.Gly4437Val
XM_017029192.1:c.13307G>T	XP_016884681.1:p.Gly4436Val
XM_017029193.1:c.13289G>T	XP_016884682.1:p.Gly4430Val
XM_017029194.1:c.13265G>T	XP_016884683.1:p.Gly4422Val
XM_017029195.1:c.13262G>T	XP_016884684.1:p.Gly4421Val
XM_017029196.1:c.13259G>T	XP_016884685.1:p.Gly4420Val
XM_017029197.1:c.13211G>T	XP_016884686.1:p.Gly4404Val
XM_017029198.2:c.13199G>T	XP_016884687.1:p.Gly4400Val
XM_017029199.1:c.13199G>T	XP_016884688.1:p.Gly4400Val
XM_017029200.1:c.13199G>T	XP_016884689.1:p.Gly4400Val
XM_017029201.1:c.13199G>T	XP_016884690.1:p.Gly4400Val
XM_017029202.1:c.13199G>T	XP_016884691.1:p.Gly4400Val
XM_017029203.1:c.13199G>T	XP_016884692.1:p.Gly4400Val
XM_017029204.1:c.13061G>T	XP_016884693.1:p.Gly4354Val
XM_017029206.1:c.12908G>T	XP_016884695.1:p.Gly4303Val
XM_024452322.1:c.13178G>T	XP_024308090.1:p.Gly4393Val
NM_031407.7:c.12929G>T MANE Select	NP_113584.3:p.Gly4310Val